Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30845 | 92758;92759;92760 | chr2:178549093;178549092;178549091 | chr2:179413820;179413819;179413818 |
| N2AB | 29204 | 87835;87836;87837 | chr2:178549093;178549092;178549091 | chr2:179413820;179413819;179413818 |
| N2A | 28277 | 85054;85055;85056 | chr2:178549093;178549092;178549091 | chr2:179413820;179413819;179413818 |
| N2B | 21780 | 65563;65564;65565 | chr2:178549093;178549092;178549091 | chr2:179413820;179413819;179413818 |
| Novex-1 | 21905 | 65938;65939;65940 | chr2:178549093;178549092;178549091 | chr2:179413820;179413819;179413818 |
| Novex-2 | 21972 | 66139;66140;66141 | chr2:178549093;178549092;178549091 | chr2:179413820;179413819;179413818 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs776489830  |
-0.68 | 1.0 | D | 0.896 | 0.836 | 0.916646520119 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/L | rs776489830 |
-0.68 | 1.0 | D | 0.896 | 0.836 | 0.916646520119 | gnomAD-4.0.0 | 3.0984E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23786E-06 | 0 | 0 |
| P/S | rs1314867474 |
None | 1.0 | D | 0.864 | 0.797 | 0.664918217258 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs1314867474 |
None | 1.0 | D | 0.864 | 0.797 | 0.664918217258 | gnomAD-4.0.0 | 6.57479E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47016E-05 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.707 | likely_pathogenic | 0.6858 | pathogenic | -1.961 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.618577261 | None | None | N |
| P/C | 0.9836 | likely_pathogenic | 0.9844 | pathogenic | -1.504 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/D | 0.9969 | likely_pathogenic | 0.9969 | pathogenic | -2.194 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/E | 0.992 | likely_pathogenic | 0.9925 | pathogenic | -2.112 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/F | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/G | 0.9727 | likely_pathogenic | 0.9728 | pathogenic | -2.384 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/H | 0.9924 | likely_pathogenic | 0.9924 | pathogenic | -2.033 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/I | 0.9875 | likely_pathogenic | 0.9857 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/K | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -1.748 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/L | 0.9408 | likely_pathogenic | 0.9347 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.653603763 | None | None | N |
| P/M | 0.9881 | likely_pathogenic | 0.9865 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/N | 0.9935 | likely_pathogenic | 0.9924 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/Q | 0.9882 | likely_pathogenic | 0.9877 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.669824928 | None | None | N |
| P/R | 0.9906 | likely_pathogenic | 0.9916 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.653805567 | None | None | N |
| P/S | 0.9405 | likely_pathogenic | 0.9302 | pathogenic | -2.276 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.5935642 | None | None | N |
| P/T | 0.9223 | likely_pathogenic | 0.9035 | pathogenic | -2.07 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.644085012 | None | None | N |
| P/V | 0.9533 | likely_pathogenic | 0.9456 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.73 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/Y | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.